R65Q (p.Arg65Gln) variant of NOTCH2 (Q04721)
R65Q (p.Arg65Gln) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- cosmic curated COSV56711
- ESP rs377214276
- ExAC rs377214276
- TOPMed rs377214276
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.04
- CADD 23.00
- PolyPhen-2 0.78
- SIFT 0.40
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available